Results 161 to 170 of about 3,220,539 (261)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Exposure-aware multi-omics and artificial intelligence for biomarker discovery and precision prevention in diffuse glioma. [PDF]

Front Immunol
Zhang S, Si Z, Yang N, Chen X.
europepmc   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Pharmaco-multiomics in major depressive disorder: a narrative review and proposed translational framework for difficult-to-treat and treatment-resistant depression. [PDF]

Front Pharmacol
Baune BT.
europepmc   +1 more source

External Capital Structures and Oil Price Volatility [PDF]

We assess the extent to which a country’s external capital structure can aid in mitigating the macroeconomic impact of oil price shocks. We study two Caribbean economies highly vulnerable to oil price shocks, an oil-importer (Jamaica) and an oil-exporter
Alessandro Rebucci, Veronica Cacdac Warnock, Francis E. Warnock, John D. Burger   +3 more
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Predicting 3-month prognosis of cerebral venous thrombosis: a machine learning approach incorporating inflammatory markers. [PDF]

Front Neurol
Huang H, Chen F, Chen Y, Lin S, Tian X, Mu S, Li J, Hou P, Chen S, Wu C, Wei L, Wang S, Li Z.   +12 more
europepmc   +1 more source

Feature Story: Training and teamwork help save a life

, 2014
One person is alive today thanks to a quick response from people who were at the right place at the right time at the University of Regina. The person, who does not want to be identified, collapsed while working out at the U of R’s Fitness and Wellness ...
External Relations, University of Regina
core  

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Integrated Inflammatory, Thrombo-Inflammatory, Redox and Soluble IFNAR2 Profiling During Hospitalization for COVID-19: An Exploratory Observational Cohort Study. [PDF]

J Clin Med
Martínez Mesa Á, Cabrera César E, García-Fernandez M, Zamorano-González P, Segura Romero MM, López García J, Martín-Montañez E, Fernández Ó, Velasco Garrido JL.   +8 more
europepmc   +1 more source